Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.

ABSTRACT:

Background

Spondylocostal dysostosis is a rare genetic disorder caused by mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has been reported and called spondylospinal thoracic dysostosis. Both disorders affect the spine and ribs, leading to abnormal development of the spine. Spondylospinal thoracic dysostosis is a rare syndrome characterized by the association of multiple vertebral segmentation defects, thoracic cage deformity, and multiple pterygia. This syndrome can be considered a different form of the described spondylocostal dysostosis. However, no genetic testing has been conducted for this rare disorder so f

SUBMITTER: Bouchoucha S 

PROVIDER: S-EPMC10512740 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature